Nephronophthisis-Cystic Renal Medulla Complex: Diagnosis by Computerized Tomography

Abstract

A 19-year-old man with renal failure and mild hypertension was found to have juvenile nephronophthisis. The diagnosis was established by computerized tomography of the kidneys after other imaging techniques had proved inconclusive. Computerized tomography is advocated as the investigation of choice if this diagnosis is considered.

Renal medullary cystic disease: assessment by MRI

“…The imaging appearance of medullary cystic disease has been well described using multiple modalities, including excretory urography [1], angiography [2], ultrasound [3,4], and CT [5]. With the typical clinical presentation, the imaging appearance of small to normal sized kidneys with multiple cysts in the medulla and particularly at the corticomedullary junction is presumptive evidence of the disease.…”

“…If the ultrasound is inconclusive, further assessment may be required. Enhanced CT can resolve very small cysts [5] but the intravenous (IV) contrast material is often contraindicated in the presence of renal failure. Excretory urography and angiography also require contrast material, are relatively insensitive for detecting cysts, and are not currently utilized for the diagnosis of medullary cystic disease.…”

A Case with Nephrophthisis Complex or a Variant of the Disease

“…Thus the patient was diagnosed to have nephrogenic diabetes insipidus. Devel opment of nephrogenic diabetes insipidus together with the laboratory data, pathogno monic ultrasonographic findings for JN and the family history' led to the diagnosis of nephrophthisis [3][4][5]. Presence of hepatic fi brosis also supported the diagnosis [6].…”

Nephronophthisis and Medullary Cystic Kidney Disease in Children

“…Roentgenography contributes little to the diagnosis of the disease. Medullary cysts can sometimes also be demonstrated on magnetic resonance imaging or computed tomography [144,145]. Histology is characteristic but not pathognomonic in NPHP or MCKD, because cysts may be absent and tubulointerstitial disease can be relatively unspecific.…”